MCID: RNL028
MIFTS: 49

Renal Tubular Dysgenesis

Categories: Genetic diseases, Rare diseases, Nephrological diseases, Fetal diseases

Aliases & Classifications for Renal Tubular Dysgenesis

MalaCards integrated aliases for Renal Tubular Dysgenesis:

Name: Renal Tubular Dysgenesis 53 49 24 55 71 36 13 51
Primitive Renal Tubule Syndrome 53 49 24 55
Rtd 53 49 71
Allanson Pantzar Mcleod Syndrome 24 69
Renal Tubular Dysgenesis of Genetic Origin 55
Renotubular Dysgenesis 55

Characteristics:

Orphanet epidemiological data:

55
renal tubular dysgenesis
Inheritance: Autosomal recessive,Not applicable;
renal tubular dysgenesis of genetic origin
Inheritance: Autosomal recessive;

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
affected infants often die in utero or in the postnatal period


HPO:

31
renal tubular dysgenesis:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Renal Tubular Dysgenesis

NIH Rare Diseases : 49 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 3033Disease definitionRenal tubular dysgenesis is a rare disorder of the fetus characterized by absent or poorly developed proximal tubules of the kidneys, persistent oligohydramnios, leading to Potter sequence (facial dysmorphism with large and flat low-set ears, lung hypoplasia arthrogryposis and limb positioning defects), and skull ossification defects. It can be acquired during fetal development due to drugs taken by the mother or certain disorders (twin-twin transfusion syndrome, TTTS; see this term) or inherited in an autosomal recessive manner.Visit the Orphanet disease page for more resources. Last updated: 2/29/2012

MalaCards based summary : Renal Tubular Dysgenesis, also known as primitive renal tubule syndrome, is related to kidney disease and oligohydramnios, and has symptoms including hypertelorism, microcephaly and nephropathy. An important gene associated with Renal Tubular Dysgenesis is AGT (Angiotensinogen), and among its related pathways/superpathways are Renin-angiotensin system and p70S6K Signaling. Affiliated tissues include kidney, lung and bone, and related phenotypes are adipose tissue and cardiovascular system

Genetics Home Reference : 24 Renal tubular dysgenesis is a severe kidney disorder characterized by abnormal development of the kidneys before birth. In particular, kidney structures called proximal tubules are absent or underdeveloped. These structures help to reabsorb needed nutrients, water, and other materials into the blood and excrete everything else into the urine. Without functional proximal tubules, the kidneys cannot produce urine (a condition called anuria).

OMIM : 53 Autosomal recessive renal tubular dysgenesis is a severe disorder of renal tubular development characterized by persistent fetal anuria and perinatal death, probably due to pulmonary hypoplasia from early-onset oligohydramnios (the Potter phenotype) (Gribouval et al., 2005). Absence or paucity of differentiated proximal tubules is the histopathologic hallmark of the disorder and may be associated with skull ossification defects. (267430)

UniProtKB/Swiss-Prot : 71 Renal tubular dysgenesis: Autosomal recessive severe disorder of renal tubular development characterized by persistent fetal anuria and perinatal death, probably due to pulmonary hypoplasia from early-onset oligohydramnios (the Potter phenotype).

Related Diseases for Renal Tubular Dysgenesis

Diseases in the Renal Tubular Dysgenesis family:

Renal Tubular Dysgenesis Due to Twin-Twin Transfusion

Diseases related to Renal Tubular Dysgenesis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 77)
# Related Disease Score Top Affiliating Genes
1 kidney disease 28.8 ACE AGTR1 REN
2 oligohydramnios 28.8 ACE AGT AGTR1 REN
3 renal tubular dysgenesis due to twin-twin transfusion 12.1
4 drug-related renal tubular dysgenesis 12.1
5 pediatric hypertension 10.1 ACE AGT
6 hemochromatosis, neonatal 10.1
7 hyporeninemic hypoaldosteronism 10.1 ACE REN
8 renal artery obstruction 10.0 ACE REN
9 hypertension, diastolic 10.0 ACE REN
10 hypoaldosteronism 10.0 ACE REN
11 atrial septal defect 4 10.0 ACE REN
12 hypertensive retinopathy 10.0 ACE REN
13 orthostatic proteinuria 10.0 ACE REN
14 malignant essential hypertension 10.0 ACE REN
15 hyperaldosteronism, familial, type i 10.0 AGT REN
16 hepatorenal syndrome 10.0 ACE REN
17 pure autonomic failure 10.0 ACE REN
18 ureteral disease 10.0 ACE REN
19 pseudohyperkalemia, familial, 2, due to red cell leak 10.0 ACE REN
20 gitelman syndrome 10.0 AGT REN
21 aortic valve disease 1 9.9 ACE REN
22 pulmonary edema 9.9 ACE REN
23 hypokalemia 9.9 ACE REN
24 sleep apnea 9.9 ACE REN
25 meningococcal infection 9.9 AGT AGTR1
26 hypertensive nephropathy 9.9 ACE AGTR1
27 meconium ileus 9.8
28 microcephaly 9.8
29 nephrocalcinosis 9.8
30 nephronophthisis 9.8
31 intestinal perforation 9.8
32 ischemia 9.8
33 nephrosclerosis 9.8 ACE AGTR1
34 acute mountain sickness 9.8 ACE AGTR1
35 congenital hepatic fibrosis 9.8 AGTR1 REN
36 nonarteritic anterior ischemic optic neuropathy 9.8 ACE AGTR1
37 urinary system disease 9.8 ACE REN
38 glucose metabolism disease 9.7 ACE REN
39 microvascular complications of diabetes 5 9.7 ACE AGTR1
40 interstitial nephritis 9.7 ACE AGT REN
41 aortic valve disease 2 9.7 ACE AGT REN
42 acquired metabolic disease 9.7 ACE REN
43 autosomal dominant polycystic kidney disease 9.7 ACE AGT REN
44 renal fibrosis 9.6 AGTR1 REN
45 posterior urethral valves 9.5 ACE AGT AGTR1
46 aortic coarctation 9.5 ACE AGT AGTR1
47 diastolic heart failure 9.5 ACE AGT AGTR1
48 microvascular complications of diabetes 3 9.5 ACE AGT AGTR1
49 ischemic optic neuropathy 9.5 ACE AGT AGTR1
50 hypertensive heart disease 9.5 ACE AGT AGTR1

Graphical network of the top 20 diseases related to Renal Tubular Dysgenesis:



Diseases related to Renal Tubular Dysgenesis

Symptoms & Phenotypes for Renal Tubular Dysgenesis

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Head:
microcephaly

Head And Neck Face:
potter facies

Cardiovascular Vascular:
hypotension, severe

Prenatal Manifestations Amniotic Fluid:
oligohydramnios, severe
fetal anuria

Skeletal Skull:
large fontanelles
wide cranial sutures
hypoplasia of the membranous bones of the skull
underdeveloped membranous cranial bones
calvaria hypoplasia

Genitourinary Kidneys:
anuria
renal tubular dysgenesis
kidney biopsy shows absence of differentiated proximal tubules
primitive renal tubules may exist
thickening of renal arterial walls

Respiratory Lung:
pulmonary hypoplasia secondary to oligohydramnios
neonatal respiratory failure due to pulmonary hypoplasia


Clinical features from OMIM:

267430

Human phenotypes related to Renal Tubular Dysgenesis:

55 31 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 55 31 hallmark (90%) Very frequent (99-80%) HP:0000316
2 microcephaly 55 31 occasional (7.5%) Occasional (29-5%) HP:0000252
3 nephropathy 55 31 occasional (7.5%) Occasional (29-5%) HP:0000112
4 joint hyperflexibility 55 31 hallmark (90%) Very frequent (99-80%) HP:0005692
5 multiple renal cysts 55 31 hallmark (90%) Very frequent (99-80%) HP:0005562
6 bilateral single transverse palmar creases 55 31 occasional (7.5%) Occasional (29-5%) HP:0007598
7 polyhydramnios 55 31 hallmark (90%) Very frequent (99-80%) HP:0001561
8 tetralogy of fallot 55 31 occasional (7.5%) Occasional (29-5%) HP:0001636
9 oligohydramnios 55 31 occasional (7.5%) Occasional (29-5%) HP:0001562
10 premature birth 55 31 hallmark (90%) Very frequent (99-80%) HP:0001622
11 pulmonary hypoplasia 55 31 hallmark (90%) Very frequent (99-80%) HP:0002089
12 proximal tubulopathy 55 31 hallmark (90%) Very frequent (99-80%) HP:0000114
13 renotubular dysgenesis 55 31 hallmark (90%) Very frequent (99-80%) HP:0008660
14 respiratory insufficiency 31 HP:0002093
15 hypotension 31 HP:0002615
16 widely patent fontanelles and sutures 31 HP:0004492
17 potter facies 31 HP:0002009
18 anuria 31 HP:0100519

MGI Mouse Phenotypes related to Renal Tubular Dysgenesis:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 adipose tissue MP:0005375 9.33 ACE AGT AGTR1
2 cardiovascular system MP:0005385 9.26 ACE AGT AGTR1 REN
3 renal/urinary system MP:0005367 8.92 ACE AGT AGTR1 REN

Drugs & Therapeutics for Renal Tubular Dysgenesis

Search Clinical Trials , NIH Clinical Center for Renal Tubular Dysgenesis

Genetic Tests for Renal Tubular Dysgenesis

Anatomical Context for Renal Tubular Dysgenesis

MalaCards organs/tissues related to Renal Tubular Dysgenesis:

38
Kidney, Lung, Bone, Liver, Placenta, Fetal Liver

Publications for Renal Tubular Dysgenesis

Articles related to Renal Tubular Dysgenesis:

(show top 50) (show all 61)
# Title Authors Year
1
Growth Restriction, Osteopenia, Placental Massive Perivillous Fibrin Deposition With (or Without) Intervillous Histiocytes and Renal Tubular Dysgenesis-An Emerging Complex. ( 29187034 )
2018
2
Renal tubular dysgenesis: antenatal ultrasound scanning and molecular investigations in a Saudi Arabian family. ( 27994858 )
2016
3
Renal function in angiotensinogen gene-mutated renal tubular dysgenesis with glomerular cysts. ( 25414114 )
2015
4
Successful treatment of hemochromatosis with renal tubular dysgenesis in a preterm infant. ( 26331014 )
2015
5
Renal tubular dysgenesis. ( 23636579 )
2014
6
Recurrent massive perivillous fibrin deposition in the placenta associated with fetal renal tubular dysgenesis: case report and literature review. ( 23899317 )
2013
7
Another case of concomitant fetal renal tubular dysgenesis and placental massive perivillous fibrin deposition. ( 24032745 )
2013
8
Survival over 2 years of autosomal-recessive renal tubular dysgenesis. ( 26069751 )
2012
9
Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis. ( 22095942 )
2012
10
Loss-of-function point mutations associated with renal tubular dysgenesis provide insights about renin function and cellular trafficking. ( 21036942 )
2011
11
Impaired proteostasis contributes to renal tubular dysgenesis. ( 21695262 )
2011
12
Renal tubular dysgenesis and reversible hypocalvaria after intrauterine exposure to an angiotensin receptor blocker. ( 25984140 )
2011
13
Renal tubular dysgenesis and tubulointerstitial nephritis antigen in juvenile nephronophthisis. ( 21265929 )
2011
14
Non-specific histopathological changes in kidney with renal tubular dysgenesis. ( 19616900 )
2010
15
Renin-angiotensin system in kidney development: renal tubular dysgenesis. ( 19924102 )
2010
16
Inherited renal tubular dysgenesis may not be universally fatal. ( 20607303 )
2010
17
Relationship of proximal renal tubular dysgenesis and fetal liver injury in neonatal hemochromatosis. ( 19809376 )
2010
18
A further case of renal tubular dysgenesis surviving the neonatal period. ( 18478260 )
2009
19
Renal tubular dysgenesis in Israel: pathologist's experience and literature review. ( 19344005 )
2009
20
Congenital unilateral renal tubular dysgenesis and severe neonatal hypertension. ( 18982358 )
2009
21
Inherited renal tubular dysgenesis: the first patients surviving the neonatal period. ( 17443344 )
2008
22
Renal tubular dysgenesis: report of two cases in a non-consanguineous couple and review of the literature. ( 17003548 )
2007
23
Renal tubular dysgenesis, a not uncommon autosomal recessive disorder leading to oligohydramnios: Role of the Renin-Angiotensin system. ( 16790508 )
2006
24
Renal tubular dysgenesis with atypical histology and in-utero exposure to naproxen sodium. ( 16925962 )
2006
25
Renal tubular dysgenesis associated with in utero exposure to Nimuselide. ( 16328538 )
2006
26
A case surviving for over a year of renal tubular dysgenesis with compound heterozygous angiotensinogen gene mutations. ( 17036344 )
2006
27
Mutations in genes in the renin-angiotensin system are associated with autosomal recessive renal tubular dysgenesis. ( 16116425 )
2005
28
Renal tubular dysgenesis-a case presentation. ( 15641273 )
2004
29
Renal tubular dysgenesis with hypoplastic calvaria: report of two cases. ( 15517826 )
2004
30
Renal tubular dysgenesis and neonatal hemochromatosis without pulmonary hypoplasia. ( 14677054 )
2004
31
Renal tubular dysgenesis complicated with severe cranium hypoplasia. ( 15043673 )
2004
32
Renal tubular dysgenesis and multiple intestinal perforation. ( 12447649 )
2003
33
Renal tubular dysgenesis. ( 12908566 )
2003
34
Renal tubular dysgenesis with medullary ray nodules. ( 12644933 )
2003
35
Renal tubular dysgenesis in an hydropic fetus with trisomy 21: a case report with literature review. ( 15018458 )
2003
36
Renal tubular dysgenesis in siblings. ( 12908573 )
2003
37
Fibroepithelial bladder polyp and renal tubular dysgenesis: an unusual cause of third-trimester oligohydramnios. ( 11549150 )
2001
38
Renal tubular dysgenesis-like lesions and hypocalvaria. Report of two cases involving indomethacin. ( 11186177 )
2000
39
Lysozyme immunostaining in renal tubular dysgenesis. ( 10679040 )
2000
40
Renal tubular dysgenesis (RTD) - an important cause of the oligohydramnion-sequence. Report of 3 cases and review of the literature. ( 11156331 )
2000
41
Renal tubular dysgenesis in twin-twin transfusion syndrome. ( 9841703 )
1999
42
Oxalate nephrocalcinosis in renal tubular dysgenesis. ( 10671031 )
1999
43
Renal tubular dysgenesis in twins. ( 9686962 )
1998
44
Neonatal hemochromatosis, renal tubular dysgenesis, and hypocalvaria in a neonate. ( 9688768 )
1998
45
Renal tubular dysgenesis, absent nipples, and multiple malformations in three brothers: a new, lethal syndrome. ( 9856560 )
1998
46
Renal tubular dysgenesis with calvarial hypoplasia: report of two additional cases and review. ( 9350819 )
1997
47
Renal tubular dysgenesis with microcephaly. ( 9260254 )
1997
48
Renal tubular dysgenesis: a cause of second trimester oligohydramnios. ( 9321784 )
1997
49
Renal tubular dysgenesis: a report of two cases. ( 8979193 )
1996
50
Familial renal tubular dysgenesis: a disorder not isolated to proximal convoluted tubules. ( 8705201 )
1995

Variations for Renal Tubular Dysgenesis

UniProtKB/Swiss-Prot genetic disease variations for Renal Tubular Dysgenesis:

71
# Symbol AA change Variation ID SNP ID
1 AGT p.Arg375Gln VAR_035433 rs74315283
2 AGTR1 p.Thr282Met VAR_035086 rs104893677
3 REN p.Arg230Lys VAR_035087 rs121917742
4 REN p.Asp104Asn VAR_035088 rs868694193

ClinVar genetic disease variations for Renal Tubular Dysgenesis:

6 (show all 20)
# Gene Variation Type Significance SNP ID Assembly Location
1 REN NM_000537.3(REN): c.145C> T (p.Arg49Ter) single nucleotide variant Pathogenic rs121917741 GRCh37 Chromosome 1, 204131245: 204131245
2 REN NM_000537.3(REN): c.689G> A (p.Arg230Lys) single nucleotide variant Pathogenic rs121917742 GRCh37 Chromosome 1, 204128527: 204128527
3 ACE NM_000789.3(ACE): c.1319_1322delTGGA (p.Leu440Profs) deletion Pathogenic rs387906576 GRCh38 Chromosome 17, 63482666: 63482669
4 ACE NM_000789.3(ACE): c.798C> G (p.Tyr266Ter) single nucleotide variant Pathogenic rs121912704 GRCh37 Chromosome 17, 61557840: 61557840
5 AGTR1 NM_031850.3(AGTR1): c.*86A> C single nucleotide variant risk factor rs5186 GRCh37 Chromosome 3, 148459988: 148459988
6 AGTR1 NM_031850.3(AGTR1): c.215dupT (p.Ile73Hisfs) duplication Pathogenic rs387906577 GRCh37 Chromosome 3, 148458932: 148458932
7 AGTR1 NM_031850.3(AGTR1): c.950C> T (p.Thr317Met) single nucleotide variant Pathogenic rs104893677 GRCh37 Chromosome 3, 148459667: 148459667
8 AGT NM_000029.3(AGT): c.803T> C (p.Met268Thr) single nucleotide variant risk factor rs699 GRCh37 Chromosome 1, 230845794: 230845794
9 AGT NM_000029.3(AGT): c.1124G> A (p.Arg375Gln) single nucleotide variant Pathogenic rs74315283 GRCh37 Chromosome 1, 230841679: 230841679
10 AGT NM_000029.3(AGT): c.604C> T (p.Gln202Ter) single nucleotide variant Pathogenic rs121912702 GRCh37 Chromosome 1, 230845993: 230845993
11 AGT NM_000029.3(AGT): c.1290delT (p.Phe430Leufs) deletion Pathogenic rs387906578 GRCh37 Chromosome 1, 230839055: 230839055
12 REN NM_000537.3(REN): c.404C> A (p.Ser135Tyr) single nucleotide variant Pathogenic rs397514691 GRCh37 Chromosome 1, 204129776: 204129776
13 AGTR1 NM_031850.3(AGTR1): c.356G> A (p.Trp119Ter) single nucleotide variant Pathogenic/Likely pathogenic rs398122935 GRCh37 Chromosome 3, 148459073: 148459073
14 AGTR1 NM_031850.3(AGTR1): c.481C> T (p.Arg161Ter) single nucleotide variant Pathogenic rs397514687 GRCh37 Chromosome 3, 148459198: 148459198
15 ACE NM_000789.3(ACE): c.1486C> T (p.Arg496Ter) single nucleotide variant Pathogenic rs397514688 GRCh37 Chromosome 17, 61560533: 61560533
16 ACE NM_000789.3(ACE): c.2371C> T (p.Arg791Ter) single nucleotide variant Pathogenic rs397514689 GRCh37 Chromosome 17, 61566074: 61566074
17 REN NM_000537.3(REN): c.127C> T (p.Arg43Ter) single nucleotide variant Pathogenic rs397514690 GRCh37 Chromosome 1, 204131263: 204131263
18 ACE NM_000789.3(ACE): c.12_31del20 (p.Ser5Alafs) deletion Pathogenic rs797045079 GRCh38 Chromosome 17, 63477106: 63477125
19 ACE NM_000789.3(ACE): c.1522C> T (p.Arg508Ter) single nucleotide variant Pathogenic/Likely pathogenic rs367797185 GRCh37 Chromosome 17, 61560855: 61560855
20 ACE NM_000789.3(ACE): c.2642-1G> A single nucleotide variant Likely pathogenic rs778390161 GRCh37 Chromosome 17, 61568314: 61568314

Expression for Renal Tubular Dysgenesis

Search GEO for disease gene expression data for Renal Tubular Dysgenesis.

Pathways for Renal Tubular Dysgenesis

Pathways related to Renal Tubular Dysgenesis according to KEGG:

36
# Name Kegg Source Accession
1 Renin-angiotensin system hsa04614

GO Terms for Renal Tubular Dysgenesis

Biological processes related to Renal Tubular Dysgenesis according to GeneCards Suite gene sharing:

(show all 24)
# Name GO ID Score Top Affiliating Genes
1 regulation of blood pressure GO:0008217 9.65 ACE AGT REN
2 positive regulation of cytosolic calcium ion concentration GO:0007204 9.62 AGT AGTR1
3 regulation of cell growth GO:0001558 9.61 AGT AGTR1
4 positive regulation of inflammatory response GO:0050729 9.61 AGT AGTR1
5 phospholipase C-activating G-protein coupled receptor signaling pathway GO:0007200 9.6 AGT AGTR1
6 positive regulation of protein tyrosine kinase activity GO:0061098 9.59 ACE AGT
7 blood vessel remodeling GO:0001974 9.58 ACE AGT
8 positive regulation of reactive oxygen species metabolic process GO:2000379 9.58 AGT AGTR1
9 positive regulation of cellular protein metabolic process GO:0032270 9.57 AGT AGTR1
10 positive regulation of macrophage derived foam cell differentiation GO:0010744 9.56 AGT AGTR1
11 amyloid-beta metabolic process GO:0050435 9.55 ACE REN
12 regulation of blood vessel diameter GO:0097746 9.54 ACE AGTR1
13 low-density lipoprotein particle remodeling GO:0034374 9.52 AGT AGTR1
14 positive regulation of cholesterol esterification GO:0010873 9.51 AGT AGTR1
15 regulation of vasoconstriction GO:0019229 9.5 ACE AGT AGTR1
16 positive regulation of NAD(P)H oxidase activity GO:0033864 9.49 AGT AGTR1
17 regulation of blood vessel diameter by renin-angiotensin GO:0002034 9.46 AGT AGTR1
18 kidney development GO:0001822 9.46 ACE AGT AGTR1 REN
19 regulation of blood volume by renin-angiotensin GO:0002016 9.43 AGT REN
20 angiotensin maturation GO:0002003 9.43 ACE AGT REN
21 regulation of renal sodium excretion GO:0035813 9.4 AGT AGTR1
22 regulation of renal output by angiotensin GO:0002019 9.37 ACE AGT
23 regulation of systemic arterial blood pressure by renin-angiotensin GO:0003081 9.13 ACE AGT AGTR1
24 renin-angiotensin regulation of aldosterone production GO:0002018 8.8 AGT AGTR1 REN

Molecular functions related to Renal Tubular Dysgenesis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endopeptidase activity GO:0004175 8.96 ACE REN
2 bradykinin receptor binding GO:0031711 8.62 ACE AGTR1

Sources for Renal Tubular Dysgenesis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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